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Coffin-Siris Syndrome

N. BARBER, MD; B. SAY, MD
Am J Dis Child. 1978;132(10):1044. doi:10.1001/archpedi.1978.02120350112028.
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Sir.—We were interested in the report in the Journal (132:393-395, 1978) by Tunnessen et al on Coffin-Siris syndrome. During the past two years we have seen three cases suggestive of this condition.

Report of Cases.—A 4-year-old boy was severely microcephalic but lacked any nail abnormalities. His 3-year-old sister had markedly hypoplastic toenails. Both siblings had coarse facial features, short stature, and mental retardation. Their hand pattern profiles were similar to those of two of the original cases reported by Coffin and Siris (Figure).1 Their mother appeared to be mentally retarded, and the father had an unusually small head and was of less than average mental ability.

The third patient lacked the characteristic facial features but had absent nails with hypoplasia of the terminal phalanges of the fifth digits. She was born prematurely, but her size was appropriate for gestational

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